Acute intermittent porphyria: Biochemical and clinical analysis in the Argentinean population

Siervi, Adriana De; Rossetti, María Victoria; Parera, Victoria Estela; Méndez, Manuel; Varela, Laura Sabina; Batlle, Alcira

doi:10.1016/s0009-8981(99)00139-4

Cited by 26 publications

(25 citation statements)

References 20 publications

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“…Relatives I2, II2 and VIII4 had shown PBGD activity only slightly diminished, so the diagnosis was confirmed by genetic studies. Urinary ALA, PBG content and erythrocyte PBGD activity were measured by methods already described (De Siervi et al, 1999a). Biochemical data are shown in Table 1.…”

Section: Patientsmentioning

confidence: 99%

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Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)

De²,

et al. 2000

Hum. Mutat.

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A partial deficiency of Porphobilinogen deaminase (PBGD) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and two previously reported were found in the PBGD gene in 22 Argentinean AIP patients corresponding to 8 different families. To screen for AIP mutations in symptomatic patients, genomic DNA isolated was amplified in 6 PCR reactions, then all coding exons and flanking intronic regions were sequenced. The novel mutations are 841‐843delGGA in exon 14, which results in the loss of glycine‐281 (G281del), and one 104C>T point mutation in the exon 4 (T35M). To further characterize both novel mutations, the pKK‐PBGD construct for the mutant alleles were expressed in E. coli, the enzymatic activity of the recombinant proteins were 1% and 4% of the mean level expressed by the normal allele for 841‐843delGGA and T35M, respectively. Hum Mutat 16:373, 2000. © 2000 Wiley‐Liss, Inc.

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Section: Patientsmentioning

confidence: 99%

“…AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000 (De Siervi et al, 1999a).…”

Section: Introductionmentioning

confidence: 99%

Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)

De²,

et al. 2000

Hum. Mutat.

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“…In addition, G111R was found to be the most frequent mutation in the Argentinean AIP population (De Siervi et al, 1999a.AIP is known to affect more females than males, as it is evident in the present study of all 20 patients being female. In a study of AIP in Argentina, a ratio of 7:3 was observed between female and male patients (De Siervi et al, 1999b). Recently, we analyzed the gender distribution among patients and latent carriers in a cohort of 21 DNA-diagnosed Swiss AIP families and were able to show that the difference in sex ratios between patients and carriers was statistically significant (Schuurmans et al, 2001).…”

Section: Resultsmentioning

confidence: 96%

Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria

et al. 2002

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Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or porphobilinogen deaminase, PBGD) gene. In this study, we analyzed 20 Polish patients affected by AIP and we were able to characterize seven novel mutations. A nonsense mutation (Y46X), two frameshift mutations (315delT and 552delT) and a 131bp deletion (nucleotides 992-1123) give rise to truncated proteins. A donor splice site mutation IVS12+2T>C predicts skipping of exon 12. A missense mutation (D61Y) was identified in two apparently unrelated patients with a clearly clinical indication of AIP. An inframe 3-bp deletion (278-280delTTG) results in the removal of V93 from the enzyme. In addition to the novel mutations, nine previously described HMBS gene mutations-R26H, G111R, IVS7+1G>A, R149X, R173Q, 730-731delCT, R225X, 982-983delCA and G335D-were identified in this cohort. Our results demonstrate that molecular analysis of the PBGD gene is a more reliable method comparing to enzymatic assay in the diagnosis of AIP. Although more than 170 different mutations are known to the HMBS gene so far, over 40% of all mutations identified among the Polish AIP patients of this study are novel mutations, indicating the heterogeneity of molecular defects causing AIP.

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“…19 Porphyria Cutanea Tarda (PCT) has been reported to have a prevalence of 1/25.000 in the British population. 18 In contrast, De Siervi et al 13 reported a prevalence of 1/125.000 in Argentina.…”

Section: Introductionmentioning

confidence: 94%

Epilepsy and porphyria: new perspectives

Solinas

Vajda

2004

Journal of Clinical Neuroscience

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Acute intermittent porphyria: Biochemical and clinical analysis in the Argentinean population

Cited by 26 publications

References 20 publications

Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)

Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)

Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria

Epilepsy and porphyria: new perspectives

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